@GREGoR_research

Discovering causes of rare disease through innovative technology and vigorous collaboration. @NIH-funded. Tweets by Data Coordinating Center @UWBiostat.

 USA
gregorconsortium.org/
Joined October 2021
  • Tweets1.8K
  • Following438
  • Followers898
62Media
New in @Nature! “GREGoR: Accelerating Genomics for Rare Diseases” highlights how the GREGoR Consortium is advancing rare disease discovery through data sharing, multi-omics, and next-gen sequencing across 7,500 individuals in 3,000+ families. 🧬nature.com/articles/s41586-0…
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Heading to the poster session Wednesday afternoon (2:30 pm) at 🧬#ASHG26? Check out the following GREGoR posters! 🪧 #RareDisease #Research #ASHG
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Board 8079W: "Identifying disease variants using deep learning predictions and personal multi-omics" by Julie Lake
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Board 1098W: "Human NOVA1 and NOVA2 variants disrupt neuronal RNA regulatory networks in neurodevelopmental disorders" by Marcello Scala
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NHGRI @GREGoR_research Program Director, Dr. Lisa Chadwick (@meandertail ) will be at #ASHG26! Stop by the NHGRI/NIH booth Wednesday, 10-11 am, and Friday, 2-4 pm, to chat with her.
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Don't miss her grants workshop/panel discussion aimed at helping early career researchers be more successful in applying for NIH grants on Wednesday, from 3-4:30 pm in 518.
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NHGRI leadership will also be giving a status update for our research community, and answering questions, Thursday, 10-11 am in 517BC.
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Join GREGoR consortium members at #ASHG26 in Montreal next week! Mark your conference calendars with these abstract presentations from GREGoR members gregorconsortium.org/events/…
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Registration for the GREGoR Ancillary Session at #ASHG26 closes Oct. 8th! Find more information and register at gregorconsortium.org/events/…
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Register for the #ASHG26 GREGoR Ancillary Session on Oct. 23, "Putting the pieces together: Multi-Omic Data from the GREGoR Consortium, Variant Matching with seqr, and Analysis with AnVIL!" Find more info and register at gregorconsortium.org/events/… by Oct. 8.
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GREGoR Consortium retweeted
Arthur Ko@arthur5koSep 1
Happy to finally share the preprint introducing the All of Us + AnVIL imputation service! A 515,579-Genome Reference Panel Improves Rare-Variant Imputation Across Multiple Underrepresented Populations medrxiv.org/content/10.64898… @AllofUsResearch

A 515,579-Genome Reference Panel Improves Rare-Variant Imputation Across Multiple Underrepresented...

Genotype imputation remains essential for large-scale human genetics studies, but its performance is limited by the size and ancestral diversity of available reference panels, reducing accuracy for...

medrxiv.org
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Catch presentations from GREGoR members at ACC2026 next week, including a keynote presentation from Ben Heavner on "Five Years on AnVIL: An Early Adopter's Experience with Consortium Data Sharing" on Sept. 1st, 9:45 am ET. Schedule: anvilproject.org/events/anvi… #GREGoR #RareDisease
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GREGoR Consortium retweeted
Ask_a_Scientist_Gaming@ScientistAskAug 21
In case you missed it live, here is Dr. Lisa Chadwick talking about life as a deputy director of @NIH @genome_gov, rare genetic diseases, remote vs. in-person work, genetic testing, @GREGoR_research, the color of cats, etc. while playing Super Paper Mario. youtube.com/watch?v=gbxiOh02…

Ep 131 (Full): Dr. Chadwick, the NIH, Genetics, and Super Paper Mario

In episode 131 of Ask a Scientist Gaming, Dr. Chadwick answers ques...

youtube.com
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GREGoR Consortium retweeted
Ask_a_Scientist_Gaming@ScientistAskAug 14
Join us Wed Aug. 19th, 8-11 pm EDT for a live Q&A with deputy director of the @NIH Division of Genome Sciences, Dr. Lisa Chadwick, who will talk funding processes, genetics, genomics, and more while playing Super Paper Mario. (@genome_gov,@GREGoR_research) genome.gov/staff/Lisa-Helbli…
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GREGoR Consortium retweeted
Andreas Gschwind@argschwindJul 15
Our paper is now out in Nature! 🎉 Expanded to 92M+ enhancer–gene links across 1,458 biosamples, with new benchmarks and analyses. "An encyclopedia of human enhancer–gene regulatory interactions": nature.com/articles/s41586-0… Grateful to the whole team of this massive effort!

An encyclopedia of human enhancer–gene regulatory interactions

Nature - An encyclopedia of more than 92 million enhancer–gene regulatory interactions created as part of the ENCODE4 project provides a valuable resource for future studies of gene...

nature.com
Andreas Gschwind@argschwind14 Nov 2023
Excited to share our latest work on bioRxiv! biorxiv.org/content/10.1101/… A highly collaborative effort with @ksmualim @karbalayghareh, @mayayayas, @kanishkadey, @evelynjagoda,@WangXijhu, @LarsMSteinmetz, @anshulkundaje, @jengreitz and many others from @ENCODE_NIH! Thread👇

An encyclopedia of enhancer-gene regulatory interactions in the human genome

Identifying transcriptional enhancers and their target genes is essential for understanding gene regulation and the impact of human genetic variation on disease[1][1]–[6][2]. Here we create and...

biorxiv.org
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⏰ Final call to submit your #research abstract for display at the 2026 #NORDSummit! Submit your #RareDisease or orphan product study, or #PublicHealth study related to rare diseases, by Wednesday, July 22, here: bit.ly/4fas6UU
Two individuals are discussing a poster presentation at the NORD Breakthrough Summit. The event encourages sharing research, insights, and innovations within the rare disease community. An orange circle highlights that poster abstracts are due by July 22.

ALT Two individuals are discussing a poster presentation at the NORD Breakthrough Summit. The event encourages sharing research, insights, and innovations within the rare disease community. An orange circle highlights that poster abstracts are due by July 22.

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GREGoR Consortium retweeted
AnVIL@useAnVILJul 15
Do you want to learn about AnVIL and run your first analysis in the cloud? Join the AnVIL 101 Virtual Workshop on Wednesday, July 29, 2026, from 1–3 PM ET. Get an intro to AnVIL, watch a live demo, and try a guided hands-on analysis. Register here: buff.ly/MnOAI41
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GREGoR Consortium retweeted
AJHG@AJHGNewsJul 15
🧬Online now! 📄Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder 🧑‍🤝‍🧑 @Philip_M_Boone @TalkowskiLab & co cell.com/ajhg/abstract/S0002…

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic...

Boone et al. describe a neurodevelopmental condition caused by haploinsufficiency of the cohesin release factor WAPL and provide phenotypic and functional genomic evidence of WAPL as a driver gene...

cell.com
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